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Hum Mutat. 2017 Aug;38(8):922-931. doi: 10.1002/humu.23263. Epub 2017 Jun 9.

RettBASE: Rett syndrome database update.

Author information

1
NSW Centre for Rett Syndrome Research, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.
2
Disciplines of Child and Adolescent, Child Health, University of Sydney, Sydney, Australia.
3
Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia.
4
Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Australia.

Abstract

Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of RTT. Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to RTT, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as distinct clinical entities. While the genetic basis for the RTT has been recognized, so far there is no effective cure for the disease and the treatments available are mainly aimed at ameliorating clinical problems associated with the disorder. The swift identification of the mutations in children is crucial for pursuing the best therapeutic care. RettBASE was created in 2002 as a MECP2 variant database and has grown to become a comprehensive variant database for RTT and related clinical phenotypes, containing a curated collection of variants for MECP2, CDKL5, and FOXG1 genes. Here, we describe the development and growth of RettBASE after its inception in 2001. Currently, RettBASE holds a total of 4,668 variants in MECP2, 498 variants in CDKL5, and 64 variants in FOXG1.

KEYWORDS:

CDKL5; FOXG1; MECP2; Rett syndrome; database; locus-specific database; mutation; phenotype-genotype correlations

PMID:
28544139
DOI:
10.1002/humu.23263
[Indexed for MEDLINE]

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